Disorders of the Lymph System

DEVELOPMENTAL DISORDERS OF THE LYMPHATIC SYSTEM

Home page: Lymphedema People

http://www.lymphedemapeople.com

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In our desire to better understand all conditions that relate to the lymphatic system below is a list of developmental disorders that affect the lymphatic system.

These are genetic based disorders that include lymphedema as one of the indications.

Definition:  

A disorder  occurring in utero which may be caused by a genetic mutation, chromosomal abnormality/ dislocation or by trauma and/or injury that affects the normal development of the lymphatic system.  The gene most associated with these developmental disorders is the FOXC2 gene.

The FOXC2 is referred to as a forkhead gene, one of 17 thus far identified in humans.  Because it is a pleiotrophic developmental gene, a mutation can cause multiple effects. 

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Turner Syndrome

What is Turner syndrome?

http://www.turner-syndrome-us.org/resource/faq.html

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Turner Syndrome Society of the United States

http://www.turner-syndrome-us.org/

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Turner Society Syndrome Support Society

http://www.tss.org.uk/

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Turner Syndrome, Its Symptoms and Treatments

http://www.turner-syndrome.com/

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Klinefelter Syndrome

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Klinefelter Syndrome

Author: Harold Chen, MD, MS, FAAP, FACMG, Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center

http://www.emedicine.com/PED/topic1252.htm

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Klinefelter Syndrome?

Or is he XXY? There IS a difference!

A Parent's View

http://xxy.50megs.com/

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Understanding Klinefelter Syndrome

http://www.nichd.nih.gov/publications/pubs/klinefelter.htm

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Klinefelter's Syndrome

Med Line Plus

http://www.nlm.nih.gov/medlineplus/klinefelterssyndrome.html br /

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Trisomy 21

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Trisomy 21: The Story of Down Syndrome

by Len Leshin, MD, FAAP

http://www.ds-health.com/trisomy.htm

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Trans-location Trisomy 21 - Special Needs and Disability Information

http://www.geocities.com/jdiehl99/

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Trisomy 21 Research Foundation of NY, Inc.

http://www.trisomy21foundation.com/

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Down Syndrome (Trisomy 21)

http://www.cincinnatichildrens.org/health/heart-encyclopedia/disease/syndrome/down.htm

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Down Syndrome WWW Page

http://www.nas.com/downsyn/

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National Down Syndrome Society Website

http://www.ndss.org/

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National Association for Down Syndrome

http://www.nads.org/

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Klippel-Trenaunay-Weber- Syndrome

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Klippel-Trenaunay-Weber Syndrome

Author: Jane H Lisko, MD, Staff Physician, Department of Dermatology, University of Minnesota Medical School

http://www.emedicine.com/derm/topic213.htm

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Klippel-Trenaunay-Weber Syndrome

MedicineNet.com

http://www.medicinenet.com/klippel-trenaunay-weber_syndrome/article.htm

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Klippel – trenaunay – weber syndrome

http://www.amershamhealth.com/medcyclopaedia/Volume%20III%201/KLIPPEL%20%20TRENAUNAY%20%20WEBER%20SYNDROME.asp

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Noonan Syndrome

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Noonan Syndrome

Author: Jennifer Ibrahim, MD, Fellow, Department of Pediatrics, Division of Genetics, Children's Hospital of New Jersey and Mount Sinai School of Medicine

Coauthor(s): Margaret McGovern, MD, PhD, Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine

http://www.emedicine.com/PED/topic1616.htm

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The Noonan Syndrome Support Group

http://www.noonansyndrome.org/

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Noonan Syndrome

National Organizations for Rare Disorders

http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Noonan%20Syndrome

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Noonan syndrome

http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm

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Noone-Milroy-Type Hereditary Lymphedema

Also known as Lymphedema I, this disorder presents as brawny edema usually of the lower extremity. The diagnosis is usually made at birth. Tissue swelling occurs distally or proximally in the involved limbs, and either hypoplasia or hyperplasia of the lymphatics has been found.


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Meige-Type Lymphedema

Also known as Lymphedema II, this syndrome is similar to Lymphedema I but the onset of peripheral edema occurs during the second to the fifth decades. The legs are the most commonly involved, and lymphangiography reveals hypoplasia of peripheral lymphatics with dilation of lymphatic trunks.

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See Also:

Development Disorders of the Lymphatic System

http://www.lymphedemapeople.com/thesite/lymphedema_developmental_disorders_of_the_lymphatics.htm

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